Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 105804841
Gene Symbol: ZRS
ZRS
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.020 GeneticVariation BEFREE Although most mutations cause preaxial polydactyly (PPD), triphalangeal thumb (TPT) or both, a mutation in position 404 of the ZRS causes more severe Werner mesomelic syndrome (WMS) for which malformations include the distal arm or leg bones in addition to the hands and/or feet. 24777739

2014
Entrez Id: 105804841
Gene Symbol: ZRS
ZRS
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.020 GeneticVariation BEFREE The novel 406A>G mutation expands mutational spectrum in ZRS causing WMS, provides evidence for a functionally important nucleotide position 406 of ZRS in humans and has implications for genetic counseling. 24965254

2014